ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

MTHFR

Full Name:

5,10-methylenetetrahydrofolate reductase (NADPH)

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

1p36.3

Physical Location:

11768373-11788701 on NC_000001.9, complement

Gene Type:

protein-coding

Orthologs:

This gene has Mouse: 17769 ortholog(s) in other dataset(s).

Gene in Ethanol Study Datasets

Gene Information

Original ID1:

MTHFR

Dataset Information

Name:		Literature Search
Method:		Literature search
Summary:		We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive.

Gene Information

Original ID	No. of Publications	Phenotype
MTHFR	3	Alcohol-Induced Disorders
MTHFR	1	Alcohol-Induced Disorders Nervous System
MTHFR	5	Alcoholism
MTHFR	5	Alcohol-Related Disorders
MTHFR	1	Alcohol Withdrawal Seizures

HuGE Navigator Dataset

Name:		HuGE Navigator
Method:		Literature data mining
Publication:		Wei Yu, Melinda Clyne, Anja Wulf, Ajay Yesupriya, Marta Gwinn and Muin J. Khoury. Phenopedia. HuGE Navigator. Available at: http://www.hugenavigator.net/HuGENavigator/startPagePhenoPedia.do. Accessed [Jun. 10, 2008].
Summary:		HuGE Navigator Phenopedia provides a disease-centered view of genetic association studies summarized in the online Human Genome Epidemiology (HuGE) encyclopedia. We extracted genes associated to 9 Alcohol-related diseases (Alcohol Amnestic Disorder; Alcohol Withdrawal Delirium; Alcohol Withdrawal Seizures; Alcohol-Induced Disorders; Alcohol-Induced Disorders, Nervous System; Alcohol-Related Disorders; Alcoholic Intoxication; Alcoholic Neuropathy; Alcoholism) from HuGE Navigator Phenopedia.

Gene Refseq Sequence Annotation

mRNA	Protein	Reference assembly Genomic
NM_005957.3	NP_005948.3	NC_000001.9 range: 11768373..11788701, complement

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005829	cytosol	Cellular Component	EXP (7726158)
GO:0004489	methylenetetrahydrofolate reductase (NADPH) activity	Molecular Function	EXP (7726158)
GO:0004489	methylenetetrahydrofolate reductase (NADPH) activity	Molecular Function	IEA
GO:0004489	methylenetetrahydrofolate reductase (NADPH) activity	Molecular Function	TAS (7647779)
GO:0005515	protein binding	Molecular Function	IPI (15231747)
GO:0016491	oxidoreductase activity	Molecular Function	IEA
GO:0006520	amino acid metabolic process	Biological Process	TAS (7647779)
GO:0006555	methionine metabolic process	Biological Process	IEA
GO:0008015	blood circulation	Biological Process	TAS (7647779)